Neonatology pp 1207-1222 | Cite as

Pathology and Treatment of Liver Diseases in Newborns

  • Giuseppe MaggioreEmail author
  • Silvia Riva
  • Marco Sciveres
Reference work entry


Liver disease in the newborn usually presents with two main distinct clinical syndromes: neonatal cholestasis and neonatal liver failure; in both cases, an urgent diagnosis is required. Cholestasis usually presents with prolonged jaundice or, less frequently, with a hemorrhagic syndrome related to late onset vitamin K deficiency. Cholestatic jaundice is associated with discolored stools and dark urines due to hyperbilirubinuria. Cholestasis affects approximately 1 in every 2,500 infants and its etiological spectrum is particularly wide, including conditions with severe prognosis. Diagnostic approach to a prolonged jaundice belongs to primary care pediatrician and includes diagnosing of its eventual cholestatic nature by evaluating abnormal stool or urine color and by measuring total and direct serum bilirubin; preventing of the hemorrhagic complications related to vitamin K deficiency by administrating a single intramuscular dose of vitamin K1; early suspecting biliary atresia in case of suggestive clinical picture, since the favorable outcome of surgery also relies on its precocity; and early referring the infant to a center experienced in the treatment of hepatobiliary disorders in childhood. Neonatal acute liver failure (NALF) is a rare and challenging condition. NALF is a multietiologic syndrome which is difficult to recognize initially. As important as the recognition of causes that may indicate specific diet and medical therapy is the selection of infants suitable for liver transplantation since mortality is high and only 25% of infants survive with their native liver. Management of NALF requires supporting the neonate until liver regeneration or liver transplantation takes place.





Alpha-1-antitrypsin deficiency


Alagille syndrome


Acute liver failure


Biliary atresia


Essential fatty acids


Familial hemophagocytic lymphohistiocytosis


Gestational alloimmune liver disease


Hereditary fructose intolerance


Hereditary tyrosinemia type 1


Macrophage activation syndrome


Neonatal acute liver failure


Neuroblastoma-amplified sequence


Neonatal hemochromatosis


Progressive familial intrahepatic cholestasis


Protease inhibitor


Small for gestational age


Vitamin K deficiency bleeding


Gamma-glutamyl transpeptidase


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Giuseppe Maggiore
    • 1
    Email author
  • Silvia Riva
    • 2
  • Marco Sciveres
    • 2
  1. 1.Department of Medical Sciences-Pediatrics, University of FerraraUniversity Hospital Arcispedale Sant Anna di ConaCONA (Ferrara)Italy
  2. 2.Pediatric Hepatology and Liver Transplant UnitIRCCS-ISMETT - University of Pittsburgh Medical Center (UPMC)PalermoItaly

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